The CFTR-France database has retrieved 39 DUPLICATIONS, which are displayed below:



Variants listing:
#Exon/intron Name Legacy name Classe
Exon 1 c.25dup disease-causing
Exon 1 c.49_50dup disease-causing
Intron 1 c.54-4235_164+377dup4723 disease-causing
Exon 3 c.175dup 306insA disease-causing
Exon 3 c.233dup 359insT ; 360-365insT ; 365-366insT (W79fs) disease-causing
Exon 4 c.413_415dup L138ins disease-causing
Exon 5 c.531dup disease-causing
Exon 6 c.586dup disease-causing
Exon 8 c.1008_1019dup 1151ins12 disease-causing
Exon 9 c.1130dup disease-causing
Exon 10 c.1248dup N417X disease-causing
Intron 11 c.1584+53_1584+63dup VUS
Exon 12 c.1616_1617dup 1749insTA disease-causing
Intron 12 c.1679+694_2490+281dup VUS
Exon 14 c.2044dup disease-causing
Exon 14 c.2045dup 2176insC disease-causing
Exon 14 c.2052dup 2184insA disease-causing
Exon 14 c.2089dup 2221insA disease-causing
Exon 14 c.2175dup 2307insA disease-causing
Exon 15 c.2502dup 2634insT disease-causing
Exon 15 c.2601dup 2732insA disease-causing
Exon 16 c.2639_2640dup disease-causing
Exon 17 c.2810dup 2942insT disease-causing
Exon 17 c.2763_2764dup 2896insAG disease-causing
Intron 19 c.3139+187dup VUS
Exon 20 c.3263dup disease-causing
Intron 20 c.3368-2dup likely pathogenic
Exon 20 c.3184_3188dup 3320ins5 disease-causing
Exon 22 c.3492dup K1165X disease-causing
Exon 22 c.3532_3535dup 3667ins4 disease-causing
Exon 23 c.3767dup 3898insC disease-causing
Exon 23 c.3773dup 3905insT disease-causing
Exon 24 c.3889dup 4016insT disease-causing
Exon 24 c.3891dup 4022insT disease-causing
Exon 25 c.4086dup 4218insT disease-causing
Exon 26 c.4147dup 4279insA disease-causing
Exon 27 c.4303dup disease-causing
Exon 27 c.4374dup VUS
Exon 27 c.4300_4301dup 4428insGA disease-causing





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